SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2514509626 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS2514509650 JAG1 Health Risk Pathogenic JAG1-related disorder, JAG1-related disorder
RS2514509662 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514510396 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514510500 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514510515 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514510557 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514511557 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514511621 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514511639 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514512834 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514512861 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514512962 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513033 SLC4A11 Health Risk Pathogenic —
RS2514513274 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513311 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513412 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513551 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513565 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513693 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514513715 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514514441 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514514448 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514514531 JAG1 Health Risk Pathogenic —
RS2514515560 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514515620 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514515688 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514515706 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514515728 JAG1;MIR6870 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514515739 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514516494 SLC4A11 Health Risk Likely pathogenic —
RS2514516613 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514516628 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514516649 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS2514516680 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514517017 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS2514517119 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514517120 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514517188 JAG1 Health Risk Likely pathogenic —
RS2514517214 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514517223 JAG1 Health Risk Pathogenic —
RS2514517227 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514517243 JAG1 Health Risk Pathogenic JAG1-related disorder, JAG1-related disorder
RS2514517277 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514517294 JAG1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2514517345 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514517862 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514518351 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514518620 SLC4A11 Health Risk Likely pathogenic —
RS2514518904 SLC4A11 Health Risk Pathogenic —
RS2514519130 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514519179 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514519182 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514519192 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514519644 SLC4A11 Health Risk Pathogenic —
RS2514520753 JAG1 Health Risk Pathogenic Deafness, Deafness
RS2514521287 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514521326 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514521362 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514521680 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514521753 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514521758 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514521775 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514521818 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514522433 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS2514523772 SLC4A11 Health Risk Pathogenic —
RS2514523804 SLC4A11 Health Risk Pathogenic —
RS2514524411 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514524480 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514524483 JAG1 Health Risk Likely pathogenic —
RS2514524510 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514524519 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514526436 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514526460 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514526520 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514526624 JAG1 Health Risk Pathogenic JAG1-related disorder, JAG1-related disorder
RS2514526656 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514526708 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514526725 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514526762 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514530484 BMP2 Health Risk Pathogenic Short stature, facial dysmorphism
RS2514530658 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514530688 BMP2 Health Risk Likely pathogenic BMP2-related disorder, BMP2-related disorder
RS2514530715 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514531153 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514531872 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514532541 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Ovarian serous cystadenocarcinoma
RS2514535463 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514536323 SLC4A11 Health Risk Pathogenic —
RS2514537464 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514537639 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514537675 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514537708 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514537903 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514537928 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514537935 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514538001 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514538027 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514538103 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514538133 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
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